Q95* (p.Gln95Ter) variant of FLNA (Filamin-A)
Q95* (p.Gln95Ter) in FLNA (Filamin-A) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
Q95* (p.Gln95Ter) variant details
- p.Gln95Ter
- rs2522771398
- ClinGen CA415254570
- ClinVar RCV004529295
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available